Incidental Mutation 'R6366:Stk38'
ID 512713
Institutional Source Beutler Lab
Gene Symbol Stk38
Ensembl Gene ENSMUSG00000024006
Gene Name serine/threonine kinase 38
Synonyms 5830476G13Rik, Ndr1, 9530097A09Rik
MMRRC Submission 044516-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.516) question?
Stock # R6366 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 29189854-29226969 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29193338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 364 (W364R)
Ref Sequence ENSEMBL: ENSMUSP00000113657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009138] [ENSMUST00000118762] [ENSMUST00000119274]
AlphaFold Q91VJ4
Predicted Effect probably benign
Transcript: ENSMUST00000009138
AA Change: W364R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000009138
Gene: ENSMUSG00000024006
AA Change: W364R

DomainStartEndE-ValueType
Blast:S_TKc 31 77 1e-9 BLAST
S_TKc 89 382 1.69e-94 SMART
S_TK_X 383 447 1.23e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118762
SMART Domains Protein: ENSMUSP00000112890
Gene: ENSMUSG00000005936

DomainStartEndE-ValueType
low complexity region 30 39 N/A INTRINSIC
BTB 46 151 1.77e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119274
AA Change: W364R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000113657
Gene: ENSMUSG00000024006
AA Change: W364R

DomainStartEndE-ValueType
Blast:S_TKc 31 77 1e-9 BLAST
S_TKc 89 382 1.69e-94 SMART
S_TK_X 383 447 1.23e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126671
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156732
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142923
Meta Mutation Damage Score 0.0612 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.0%
  • 20x: 93.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AGC serine/threonine kinase family of proteins. The kinase activity of this protein is regulated by autophosphorylation and phosphorylation by other upstream kinases. This protein has been shown to function in the cell cycle and apoptosis. This protein has also been found to regulate the protein stability and transcriptional activity of the MYC oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection and altered TLR9-activated inflammatory responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,584,766 (GRCm39) F185L probably damaging Het
Ank3 A G 10: 69,835,188 (GRCm39) D131G probably damaging Het
Boc T C 16: 44,308,015 (GRCm39) K947E probably benign Het
Ccdc110 A G 8: 46,396,425 (GRCm39) E772G probably damaging Het
Ccdc7a A G 8: 129,582,473 (GRCm39) V1055A unknown Het
Chd1l A G 3: 97,501,476 (GRCm39) V190A probably benign Het
Chl1 C A 6: 103,706,197 (GRCm39) N396K possibly damaging Het
CN725425 T G 15: 91,131,124 (GRCm39) Y420D possibly damaging Het
Col6a1 A T 10: 76,546,804 (GRCm39) I806N unknown Het
Csmd2 A G 4: 128,377,245 (GRCm39) K2042E probably benign Het
Eif4a1 G T 11: 69,561,781 (GRCm39) D15E probably benign Het
Etfb T C 7: 43,102,365 (GRCm39) L119S probably damaging Het
Fbxo42 T A 4: 140,927,260 (GRCm39) S513R probably benign Het
Gys2 C A 6: 142,409,120 (GRCm39) C45F probably benign Het
Hspa1a G A 17: 35,189,500 (GRCm39) P468S probably damaging Het
Kdm2a G T 19: 4,374,960 (GRCm39) Q724K probably benign Het
Lama3 G T 18: 12,615,194 (GRCm39) G1373W probably damaging Het
Lhx1 A T 11: 84,413,034 (GRCm39) F84Y probably damaging Het
Lpxn G A 19: 12,802,163 (GRCm39) V163M probably benign Het
Lrrc7 T C 3: 157,841,012 (GRCm39) Q1389R probably benign Het
Lrtm2 T C 6: 119,294,238 (GRCm39) R298G probably damaging Het
Ltv1 A G 10: 13,056,739 (GRCm39) V268A probably benign Het
Mgat4d T A 8: 84,095,580 (GRCm39) probably null Het
Mknk2 C A 10: 80,507,767 (GRCm39) R33L probably damaging Het
Ms4a1 A G 19: 11,236,062 (GRCm39) S42P probably damaging Het
Muc16 T C 9: 18,557,340 (GRCm39) I2984M unknown Het
Mup12 A C 4: 60,696,657 (GRCm39) F74V probably damaging Het
Nacad A C 11: 6,551,196 (GRCm39) L665R probably benign Het
Pde6a T A 18: 61,398,142 (GRCm39) probably null Het
Plb1 A G 5: 32,471,429 (GRCm39) N579D possibly damaging Het
Podn T A 4: 107,876,001 (GRCm39) I552F possibly damaging Het
Potefam1 A G 2: 110,999,937 (GRCm39) probably null Het
Pramel32 T A 4: 88,547,102 (GRCm39) I106F probably damaging Het
Prl3b1 A T 13: 27,427,875 (GRCm39) M62L probably benign Het
Ptpn13 G T 5: 103,698,919 (GRCm39) R1134L probably damaging Het
Rpl37 T A 15: 5,147,990 (GRCm39) probably null Het
Samd4 T A 14: 47,311,607 (GRCm39) probably null Het
Sh3rf2 T C 18: 42,286,130 (GRCm39) V541A probably benign Het
Shcbp1 A G 8: 4,799,380 (GRCm39) V335A probably damaging Het
Slc7a7 T C 14: 54,612,057 (GRCm39) Y282C probably damaging Het
Spag7 T C 11: 70,555,418 (GRCm39) K125E possibly damaging Het
Spata31e4 T C 13: 50,855,972 (GRCm39) Y537H probably benign Het
Sptan1 T C 2: 29,910,467 (GRCm39) S1831P possibly damaging Het
Stab1 T C 14: 30,863,395 (GRCm39) K2097R probably benign Het
Tectb G A 19: 55,170,350 (GRCm39) G67D probably damaging Het
Ttll9 G T 2: 152,833,525 (GRCm39) D208Y probably damaging Het
Tyro3 G A 2: 119,647,156 (GRCm39) D758N probably damaging Het
Tyw1 T C 5: 130,310,792 (GRCm39) probably benign Het
Unc5b C T 10: 60,614,091 (GRCm39) A253T probably benign Het
Wtap A T 17: 13,186,945 (GRCm39) probably null Het
Other mutations in Stk38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02364:Stk38 APN 17 29,210,390 (GRCm39) missense probably benign
IGL03279:Stk38 APN 17 29,203,179 (GRCm39) splice site probably benign
R0029:Stk38 UTSW 17 29,201,112 (GRCm39) missense probably benign 0.00
R0276:Stk38 UTSW 17 29,211,390 (GRCm39) critical splice donor site probably null
R0611:Stk38 UTSW 17 29,194,907 (GRCm39) missense possibly damaging 0.72
R1554:Stk38 UTSW 17 29,198,206 (GRCm39) missense possibly damaging 0.87
R4583:Stk38 UTSW 17 29,201,130 (GRCm39) missense probably damaging 1.00
R5191:Stk38 UTSW 17 29,193,344 (GRCm39) missense probably benign 0.19
R5686:Stk38 UTSW 17 29,201,103 (GRCm39) missense probably damaging 1.00
R6468:Stk38 UTSW 17 29,203,086 (GRCm39) missense probably benign 0.35
R6830:Stk38 UTSW 17 29,218,981 (GRCm39) critical splice donor site probably null
R7237:Stk38 UTSW 17 29,193,620 (GRCm39) missense possibly damaging 0.49
R8000:Stk38 UTSW 17 29,211,422 (GRCm39) missense probably benign
R8263:Stk38 UTSW 17 29,203,161 (GRCm39) missense probably damaging 1.00
R8551:Stk38 UTSW 17 29,207,199 (GRCm39) missense probably damaging 1.00
R8805:Stk38 UTSW 17 29,219,094 (GRCm39) missense probably benign 0.00
R9529:Stk38 UTSW 17 29,207,210 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGACTACTCTTTCCGAAATCG -3'
(R):5'- AGGTAGCAGAGTGAGCATCTTC -3'

Sequencing Primer
(F):5'- GCTTGGACTATATGAGACCCAGTC -3'
(R):5'- CCATGCTCATCCTTGGGATTGG -3'
Posted On 2018-04-27